Nevus Sebaceous of Jadassohn

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

“…On the other hand, the c.437A>G (p.Ala146Val) KRAS variant detected in our ECCL patient #6 is a new mutation for ECCL, although other point mutations at the same codon has been previously associated with the disease (Boppudi et al, 2016). In 1895, Jadassohn first described a patient with a congenital cutaneous lesion of linear distribution, which was initially classified as naevi sebacei, and subsequently as nevus sebaceous of Jadassohn (Jadassohn, 1895;Robinson, 1932). In 1957, Schimmelpenning recognized the association of such cutaneous lesion with brain, eye, and skeletal anomalies (Schimmelpenning, 1957), and shortly after Feuerstein and Mims reported two cases with the clinical triad of linear nevus sebaceous with epilepsy and mental retardation (Feuerstein & Mims, 1962).…”

Evaluation and Management of an Unusual Congenital Nevus

“…Th ese lesions are most often present at birth, classically appearing on the scalp as an alopecic area of a yellow-orange, linear, crescentic, or round plaque with a waxy sheen (4)(5)(6). Histologically, biopsy may reveal immature hair follicles, ectopically located apocrine glands, and abundant sebaceous glands sitting uncharacteristically superfi cial in the dermis (7).…”

Dermatoscopic diagnostics of nevus sebaceous of Jadassohn

“…Невус сальных желез Ядассона, проявляясь с рождения, представляет собой макулезный желтова-то-оранжевый очаг, полностью или почти полностью ли-шенный волос. После наступления полового созревания пятнистый очаг превращается в бляшечный и начинает элевировать над поверхностью кожи в той или иной сте-пени [2]. Невус сальных желез и синдром Шиммельпен-нинга -Фойерштайна -Мимса являются следствием мозаицизма и вызваны постзиготными мутациями ге-нов HRAS и KRAS.…”